Genetic and epigenetic dysregulation in congenital anomalies of the kidneys and urinary tract (P01)

• Subject Area: Developmental Biology ; Human Genetics
• Term: since 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P1 will investigate genetic and epigenetic dysregulation in CAKUT. She will couple data from pediatric renal hypodysplasia patients with mutations in epigenetic regulators such as KMT2D, KANSL1, and KDM6A with molecular analyses of how chromatin modifications guide kidney-specific developmental programs, as well as with phenotypic and molecular analyses of conditional mouse mutants of these epigenetic, chromatin-modifying enzymes. This project will include cutting-edge techniques such as spatial transcriptomics and 3D models of disease and an extension to population genetics in order to dissect genetic and epigenetic dysregulation in CAKUT.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Privatdozent Dr. Ekkehart Ullrich Lausch, until 12/2024; Dr. Miriam Schmidts